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Updates on the COPD gene list

Authors Bosse Y

Received 23 June 2012

Accepted for publication 9 August 2012

Published 18 September 2012 Volume 2012:7 Pages 607—631


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Video abstract presented by Yohan Bosse

Views: 352

Yohan Bossé1,2

Centre de recherche Institut universitaire de cardiologie et de pneumologie de Québec, 2Department of Molecular Medicine, Laval University, Quebec, Canada

Abstract: A genetic contribution to develop chronic obstructive pulmonary disease (COPD) is well established. However, the specific genes responsible for enhanced risk or host differences in susceptibility to smoke exposure remain poorly understood. The goal of this review is to provide a comprehensive literature overview on the genetics of COPD, highlight the most promising findings during the last few years, and ultimately provide an updated COPD gene list. Candidate gene studies on COPD and related phenotypes indexed in PubMed before January 5, 2012 are tabulated. An exhaustive list of publications for any given gene was looked for. This well-documented COPD candidate-gene list is expected to serve many purposes for future replication studies and meta-analyses as well as for reanalyzing collected genomic data in the field. In addition, this review summarizes recent genetic loci identified by genome-wide association studies on COPD, lung function, and related complications. Assembling resources, integrative genomic approaches, and large sample sizes of well-phenotyped subjects is part of the path forward to elucidate the genetic basis of this debilitating disease.

Keywords: COPD, genetics, lung function, candidate genes, genome-wide association study

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